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Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion.

作者信息

Bass N E, Wyllie E, Cohen B, Joseph S A

机构信息

Department of Neurology, Cleveland Clinic Foundation, Ohio, USA.

出版信息

J Child Neurol. 1996 Sep;11(5):422-4. doi: 10.1177/088307389601100519.

DOI:10.1177/088307389601100519
PMID:8877616
Abstract
摘要

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Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion.维生素B6依赖型癫痫:重复进行维生素B6试验的必要性以及静脉输注维生素B6导致严重脑电抑制的风险。
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Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.两名由ALDH7A1突变引起的吡哆醇依赖性癫痫患者的长期治疗结果:神经认知结果正常
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The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.对吡哆醇-IV 的脑电图反应既不能确定也不能排除吡哆醇依赖性癫痫。
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Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.两名吡哆醇依赖性癫痫患者血浆和脑脊液中哌可酸水平升高。
Ann Neurol. 2000 Jul;48(1):121-5.

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BMC Neurol. 2024 Nov 5;24(1):430. doi: 10.1186/s12883-024-03936-1.
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Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too.维生素B6疗法:不仅关乎剂量,疗程同样重要。
J Pediatr Genet. 2020 Dec 7;12(1):73-75. doi: 10.1055/s-0040-1721137. eCollection 2023 Mar.
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A case for newborn screening for pyridoxine-dependent epilepsy.新生儿吡哆醇依赖型癫痫筛查病例报告。
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2). doi: 10.1101/mcs.a006197. Print 2022 Feb.
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Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.维生素B6依赖型癫痫和抗泛素缺乏导致新生儿期起病的难治性癫痫发作。
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.导致吡哆醇依赖性癫痫的 ALDH7A1 突变的基因型谱:一种常见的癫痫性脑病。
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